This gene encodes a large protein that contains many cadherin domains and likely functions in cell adhesion. Genome-wide association studies suggest that this gene may be important in Alzheimer's disease, compressive strength index, and appendicular lean mass. [provided by RefSeq, May 2017] See more...

Aliases for DCHS2 Gene

Aliases for DCHS2 Gene

  • Dachsous Cadherin-Related 2 2 3 5
  • PCDHJ 2 3 4
  • CDHJ 2 3 4
  • Cadherin-Related Family Member 7 2 3
  • Cadherin-Like Protein CDHJ 3 4
  • Protein Dachsous Homolog 2 3 4
  • Cadherin-Like Protein VR8 3 4
  • Protocadherin PCDHJ 3 4
  • Cadherin-Like 27 2 3
  • Protocadherin-23 3 4
  • PCDH23 3 4
  • CDH27 3 4
  • CDHR7 2 3
  • Dachsous 2 (Drosophila) 2
  • Protocadherin 23 3
  • Protocadherin J 3
  • Cadherin-27 4
  • Cadherin J 3
  • FLJ20047 2
  • DCHS2 5

External Ids for DCHS2 Gene

Previous HGNC Symbols for DCHS2 Gene

  • CDH27
  • PCDH23

Previous GeneCards Identifiers for DCHS2 Gene

  • GC04M155513
  • GC04M155374
  • GC04M155155
  • GC04M150896

Summaries for DCHS2 Gene

Entrez Gene Summary for DCHS2 Gene

  • This gene encodes a large protein that contains many cadherin domains and likely functions in cell adhesion. Genome-wide association studies suggest that this gene may be important in Alzheimer's disease, compressive strength index, and appendicular lean mass. [provided by RefSeq, May 2017]

GeneCards Summary for DCHS2 Gene

DCHS2 (Dachsous Cadherin-Related 2) is a Protein Coding gene. Diseases associated with DCHS2 include Van Maldergem Syndrome and Adult Pineoblastoma. Among its related pathways are Hippo signaling pathway - multiple species. Gene Ontology (GO) annotations related to this gene include calcium ion binding. An important paralog of this gene is DCHS1.

UniProtKB/Swiss-Prot Summary for DCHS2 Gene

Gene Wiki entry for DCHS2 Gene

No data available for CIViC Summary , Tocris Summary , PharmGKB "VIP" Summary , Rfam classification and piRNA Summary for DCHS2 Gene

Genomics for DCHS2 Gene

GeneHancer (GH) Regulatory Elements Pubs

Promoters and enhancers for DCHS2 Gene
GeneHancer (GH) Identifier GH Type GH
Score
GH Sources Gene Association Score Total Score TSS distance (kb) Number of Genes Away Size (kb) Transcription Factor
Binding Sites
Gene Targets
GH04J154489 Promoter/Enhancer 1.8 EPDnew Ensembl ENCODE CraniofacialAtlas 257.2 +0.4 382 1.6 ZNF600 NFIC ZIC2 MXD4 ZNF341 ZNF513 ZNF610 SP2 SMAD4 SAP130 DCHS2 HSALNG0037984 HSALNG0037985 PLRG1 ENSG00000249200 SFRP2
GH04J154512 Enhancer 0.3 Ensembl CraniofacialAtlas 22.4 -20.7 -20726 1.4 HSALNG0037987 DCHS2 FGA PLRG1 ENSG00000250609
GH04J154454 Enhancer 0.9 ENCODE 7 +36.3 36272 2.7 MYC NCOR1 IKZF1 ZNF592 NFIC MBD2 TBP ARNT TAF9B NBN DCHS2 HSALNG0037984 ENSG00000249200 SFRP2
GH04J154415 Promoter/Enhancer 1.2 ENCODE CraniofacialAtlas 5.1 +75.2 75160 2.4 IKZF1 YY1 BCL11A REST TBP MNT CTCF SIN3A TAF9B NBN DCHS2 ENSG00000249200 HSALNG0037984 lnc-FGB-3 SFRP2
GH04J154470 Enhancer 0.9 Ensembl ENCODE 6.6 +19.6 19557 2.5 NFIC YY1 BHLHE40 TAF9B FOXA2 RXRA SAP130 FOXP1 SOX5 SMARCA4 DCHS2 HSALNG0037984 ENSG00000249200 SFRP2
- Elite GeneHancer and/or Elite GeneHancer-gene association Download GeneHancer data from 2017 publication | Request up-to-date GeneHancer data (full dataset)

GeneHancers around DCHS2 on the GeneHancer Hub at the UCSC Golden Path

Cistromic (ChIP-Seq) regulation report from SPP (The Signaling Pathways Project) for DCHS2

Top Transcription factor binding sites by QIAGEN in the DCHS2 gene promoter:
  • Brachyury
  • Chx10
  • COUP
  • COUP-TF
  • HTF
  • POU2F1a

Genomic Locations for DCHS2 Gene

Latest Assembly
chr4:154,231,742-154,491,799
(GRCh38/hg38)
Size:
260,058 bases
Orientation:
Minus strand

Previous Assembly
chr4:155,152,894-155,412,951
(GRCh37/hg19 by Entrez Gene)
Size:
260,058 bases
Orientation:
Minus strand

chr4:155,153,399-155,412,930
(GRCh37/hg19 by Ensembl)
Size:
259,532 bases
Orientation:
Minus strand

Alternative Locations (GRCh38/hg38)

  • chr4(PATCHES):159,371-419,428 (-)

Genomic View for DCHS2 Gene

Genes around DCHS2 on UCSC Golden Path with GeneCards custom track

Cytogenetic band:
DCHS2 Gene in genomic location: bands according to Ensembl, locations according to GeneLoc (and/or Entrez Gene and/or Ensembl if different)
Genomic Location for DCHS2 Gene
GeneLoc Logo Genomic Neighborhood Exon StructureGene Density

RefSeq DNA sequence for DCHS2 Gene

Proteins for DCHS2 Gene

  • Protein details for DCHS2 Gene (UniProtKB/Swiss-Prot)

    Protein Symbol:
    Q6V1P9-PCD23_HUMAN
    Recommended name:
    Protocadherin-23
    Protein Accession:
    Q6V1P9
    Secondary Accessions:
    • A0A096LNH0
    • B2RU14
    • E9PC11
    • Q4W5P9
    • Q6ZS61
    • Q9NXU8

    Protein attributes for DCHS2 Gene

    Size:
    3371 amino acids
    Molecular mass:
    370228 Da
    Quaternary structure:
    No Data Available
    SequenceCaution:
    • Sequence=AAR10443.1; Type=Miscellaneous discrepancy; Note=Probable cloning artifact.; Evidence={ECO:0000305}; Sequence=AAY41019.1; Type=Erroneous gene model prediction; Evidence={ECO:0000305}; Sequence=BAA90911.1; Type=Erroneous initiation; Note=Truncated N-terminus.; Evidence={ECO:0000305}; Sequence=BAC87093.1; Type=Frameshift; Evidence={ECO:0000305};

    Alternative splice isoforms for DCHS2 Gene

    UniProtKB/Swiss-Prot:

neXtProt entry for DCHS2 Gene

Post-translational modifications for DCHS2 Gene

  • Glycosylation at Asn669, Asn814, Asn905, Asn966, Asn1038, Asn1172, Asn1275, Asn1487, Asn1595, Asn1664, Asn1898, Asn2054, Asn2070, Asn2329, Asn2479, Asn2497, Asn2555, Asn2664, Asn2929, and Asn2977
  • Modification sites at PhosphoSitePlus

Other Protein References for DCHS2 Gene

No data available for DME Specific Peptides for DCHS2 Gene

Domains & Families for DCHS2 Gene

Gene Families for DCHS2 Gene

HGNC:
Human Protein Atlas (HPA):
  • Predicted membrane proteins

Protein Domains for DCHS2 Gene

InterPro:
Blocks:
  • Cadherin

Suggested Antigen Peptide Sequences for DCHS2 Gene

GenScript: Design optimal peptide antigens:
  • DCHS2 protein (B2RU14_HUMAN)
  • Dachsous 2 (Drosophila), isoform CRA_b (D3DP12_HUMAN)
  • Protocadherin PCDHJ (PCD23_HUMAN)
genes like me logo Genes that share domains with DCHS2: view

No data available for Graphical View of Domain Structure and UniProtKB/Swiss-Prot for DCHS2 Gene

Function for DCHS2 Gene

Molecular function for DCHS2 Gene

UniProtKB/Swiss-Prot Function:
Calcium-dependent cell-adhesion protein.

Phenotypes From GWAS Catalog for DCHS2 Gene

Gene Ontology (GO) - Molecular Function for DCHS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0003674 molecular_function ND --
GO:0005509 calcium ion binding IEA --
genes like me logo Genes that share ontologies with DCHS2: view
genes like me logo Genes that share phenotypes with DCHS2: view

miRNA for DCHS2 Gene

miRTarBase miRNAs that target DCHS2

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DCHS2

No data available for Enzyme Numbers (IUBMB) , Human Phenotype Ontology , Animal Models , Transcription Factor Targets and HOMER Transcription for DCHS2 Gene

Localization for DCHS2 Gene

Subcellular locations from UniProtKB/Swiss-Prot for DCHS2 Gene

Membrane. Multi-pass membrane protein.

Subcellular locations from

COMPARTMENTS
Extracellular space Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi Apparatus Nucleus Mitochondrion 0 1 2 3 4 5 Confidence
COMPARTMENTS Subcellular localization image for DCHS2 gene
Compartment Confidence
plasma membrane 3
extracellular 1
cytoskeleton 1
mitochondrion 1
nucleus 1
cytosol 1
peroxisome 0

Subcellular locations from the

Human Protein Atlas (HPA)
  • Plasma membrane (2)
  • Vesicles (2)
See all subcellular structures

Gene Ontology (GO) - Cellular Components for DCHS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0005575 cellular_component ND --
GO:0005886 plasma membrane IEA --
GO:0016020 membrane IEA --
GO:0016021 integral component of membrane IEA --
genes like me logo Genes that share ontologies with DCHS2: view

Pathways & Interactions for DCHS2 Gene

PathCards logo

SuperPathways for DCHS2 Gene

genes like me logo Genes that share pathways with DCHS2: view

Pathways by source for DCHS2 Gene

1 KEGG pathway for DCHS2 Gene

Interacting Proteins for DCHS2 Gene

Gene Ontology (GO) - Biological Process for DCHS2 Gene

GO ID Qualified GO term Evidence PubMed IDs
GO:0007155 cell adhesion IEA --
GO:0007156 homophilic cell adhesion via plasma membrane adhesion molecules IEA --
GO:0008150 biological_process ND --
GO:0072006 nephron development IEA --
GO:0072137 condensed mesenchymal cell proliferation IEA --
genes like me logo Genes that share ontologies with DCHS2: view

No data available for SIGNOR curated interactions for DCHS2 Gene

Drugs & Compounds for DCHS2 Gene

(1) Drugs for DCHS2 Gene - From: HMDB

Name Status Disease Links Group Role Mechanism of Action Clinical Trials
Calcium Nutra 6959
genes like me logo Genes that share compounds with DCHS2: view

Transcripts for DCHS2 Gene

mRNA/cDNA for DCHS2 Gene

5 REFSEQ mRNAs :
11 NCBI additional mRNA sequence :
8 Ensembl transcripts including schematic representations, and UCSC links to gene/alias where relevant :

Inhibitory RNAs for research

  • Search GeneCopoeia for shRNA, lentivirus and/or AAV clone products for DCHS2

Alternative Splicing Database (ASD) splice patterns (SP) for DCHS2 Gene

ExUns: 1 ^ 2 ^ 3 ^ 4 ^ 5 ^ 6 ^ 7 ^ 8a · 8b ^ 9 ^ 10 ^ 11 ^ 12a · 12b ^ 13a · 13b · 13c ^ 14 ^ 15 ^ 16 ^ 17 ^ 18 ^ 19 ^ 20 ^ 21 ^ 22 ^
SP1: - - - -
SP2: - - - - - - - - - -
SP3: - - -
SP4: - -

ExUns: 23 ^ 24 ^ 25 ^ 26 ^ 27 ^ 28 ^ 29
SP1:
SP2:
SP3:
SP4:

Relevant External Links for DCHS2 Gene

GeneLoc Exon Structure for
DCHS2

Expression for DCHS2 Gene

mRNA expression in normal human tissues from GTEx, Illumina, BioGPS, and SAGE for DCHS2 Gene

Protein differential expression in normal tissues from HIPED for DCHS2 Gene

This gene is overexpressed in Bone marrow stromal cell (54.6) and Brain (6.1).

Integrated Proteomics: protein expression in normal tissues and cell lines from ProteomicsDB and MOPED for DCHS2 Gene



Transcriptomic regulation report from SPP (The Signaling Pathways Project) for DCHS2

SOURCE GeneReport for Unigene cluster for DCHS2 Gene:

Hs.655664

mRNA Expression by UniProt/SwissProt for DCHS2 Gene:

Q6V1P9-PCD23_HUMAN
Tissue specificity: Cerebral cortex and testis.

Evidence on tissue expression from TISSUES for DCHS2 Gene

  • Nervous system(4.4)
  • Intestine(4.2)
genes like me logo Genes that share expression patterns with DCHS2: view

Primer products for research

No data available for mRNA expression in embryonic tissues and stem cells from LifeMap Discovery , mRNA differential expression in normal tissues , Protein tissue co-expression partners and Phenotype-based relationships between genes and organs from Gene ORGANizer for DCHS2 Gene

Orthologs for DCHS2 Gene

This gene was present in the common ancestor of animals.

Orthologs for DCHS2 Gene

Organism Taxonomy Gene Similarity Type Details
Chimpanzee
(Pan troglodytes)
Mammalia LOC100614431 29
  • 98.93 (n)
DCHS2 30
  • 98 (a)
OneToOne
Dog
(Canis familiaris)
Mammalia DCHS2 29 30
  • 84.09 (n)
OneToOne
Cow
(Bos Taurus)
Mammalia DCHS2 29 30
  • 79.65 (n)
OneToOne
Rat
(Rattus norvegicus)
Mammalia Dchs2 29
  • 77.56 (n)
Platypus
(Ornithorhynchus anatinus)
Mammalia DCHS2 30
  • 59 (a)
OneToOne
Oppossum
(Monodelphis domestica)
Mammalia DCHS2 30
  • 52 (a)
OneToOne
Chicken
(Gallus gallus)
Aves -- 30
  • 19 (a)
ManyToMany
Lizard
(Anolis carolinensis)
Reptilia DCHS2 30
  • 44 (a)
OneToOne
Tropical Clawed Frog
(Silurana tropicalis)
Amphibia dchs2 29
  • 58.64 (n)
Zebrafish
(Danio rerio)
Actinopterygii LOC100004458 29
  • 53.03 (n)
DCHS2 30
  • 25 (a)
OneToOne
Fruit Fly
(Drosophila melanogaster)
Insecta ds 30
  • 25 (a)
OneToMany
Worm
(Caenorhabditis elegans)
Secernentea cdh-1 30
  • 21 (a)
OneToMany
Sea Squirt
(Ciona savignyi)
Ascidiacea -- 30
  • 26 (a)
OneToMany
Species where no ortholog for DCHS2 was found in the sources mined by GeneCards:
  • A. gosspyii yeast (Eremothecium gossypii)
  • Actinobacteria (Mycobacterium tuberculosis)
  • African clawed frog (Xenopus laevis)
  • African malaria mosquito (Anopheles gambiae)
  • Alicante grape (Vitis vinifera)
  • Alpha proteobacteria (Wolbachia pipientis)
  • Amoeba (Dictyostelium discoideum)
  • Archea (Pyrococcus horikoshii)
  • Baker's yeast (Saccharomyces cerevisiae)
  • Barley (Hordeum vulgare)
  • Beta proteobacteria (Neisseria meningitidis)
  • Bread mold (Neurospora crassa)
  • Chromalveolata (Phytophthora infestans)
  • Common water flea (Daphnia pulex)
  • Corn (Zea mays)
  • E. coli (Escherichia coli)
  • Filamentous fungi (Aspergillus nidulans)
  • Firmicute Bacteria (Streptococcus pneumoniae)
  • Fission Yeast (Schizosaccharomyces pombe)
  • Green Algae (Chlamydomonas reinhardtii)
  • Honey Bee (Apis mellifera)
  • K. Lactis Yeast (Kluyveromyces lactis)
  • Loblloly Pine (Pinus taeda)
  • Malaria Parasite (Plasmodium falciparum)
  • Medicago Trunc (Medicago Truncatula)
  • Moss (Physcomitrella patens)
  • Mouse (Mus musculus)
  • Orangutan (Pongo pygmaeus)
  • Pig (Sus scrofa)
  • Rainbow Trout (Oncorhynchus mykiss)
  • Rice (Oryza sativa)
  • Rice Blast Fungus (Magnaporthe grisea)
  • Schistosome Parasite (Schistosoma mansoni)
  • Sea Anemone (Nematostella vectensis)
  • Sea Vase (Ciona intestinalis)
  • Sea Urchin (Strongylocentrotus purpuratus)
  • Sorghum (Sorghum bicolor)
  • Soybean (Glycine max)
  • Stem Rust Fungus (Puccinia graminis)
  • Sugarcane (Saccharum officinarum)
  • Thale Cress (Arabidopsis thaliana)
  • Tomato (Lycopersicon esculentum)
  • Toxoplasmosis (Toxoplasma gondii)
  • Trichoplax (Trichoplax adhaerens)
  • Wheat (Triticum aestivum)

Evolution for DCHS2 Gene

ENSEMBL:
Gene Tree for DCHS2 (if available)
TreeFam:
Gene Tree for DCHS2 (if available)
Aminode:
Evolutionary constrained regions (ECRs) for DCHS2: view image
Alliance of Genome Resources:
Additional Orthologs for DCHS2

Paralogs for DCHS2 Gene

(11) SIMAP similar genes for DCHS2 Gene using alignment to 4 proteins:

  • PCD23_HUMAN
  • B2RU14_HUMAN
  • D3DP12_HUMAN
  • E9PG03_HUMAN
genes like me logo Genes that share paralogs with DCHS2: view

Variants for DCHS2 Gene

Sequence variations, with clinical significance, from ClinVar and Humsavar, with links to dbSNP for DCHS2 Gene

SNP ID Clinical significance and condition Chr 04 pos Variation AA Info Type
rs193920995 Uncertain Significance: Malignant tumor of prostate 154,321,024(-) C/T
NM_001358235.2(DCHS2):c.4375G>A (p.Gly1459Arg)
MISSENSE
rs386352296 Uncertain Significance: not provided 154,384,465(-) T/C
NM_001358235.2(DCHS2):c.2053-7021A>G
INTRON

dbSNP identifiers (rs#s) for variants without ClinVar clinical significance for DCHS2 Gene

All consequence types are included: molecular consequences (e.g. missense, synonymous), and location-based (e.g. intron, upstream).

Structural Variations from Database of Genomic Variants (DGV) for DCHS2 Gene

Variant ID Type Subtype PubMed ID
esv2658770 CNV deletion 23128226
esv28468 CNV loss 19812545
esv3569756 CNV loss 25503493
esv3602740 CNV gain 21293372
esv3602741 CNV loss 21293372
esv3602742 CNV gain 21293372
nsv1023270 CNV gain 25217958
nsv1128105 CNV deletion 24896259
nsv461692 CNV gain 19166990
nsv507205 OTHER sequence alteration 20534489
nsv507206 OTHER sequence alteration 20534489
nsv510924 OTHER complex 20534489
nsv595752 CNV loss 21841781
nsv595753 CNV gain 21841781
nsv822780 CNV gain 20364138
nsv822781 CNV gain 20364138
nsv830119 CNV gain 17160897

Variation tolerance for DCHS2 Gene

Residual Variation Intolerance Score: 99.4% of all genes are more intolerant (likely to be disease-causing)
Gene Damage Index Score: 19.99; 99.00% of all genes are more intolerant (likely to be disease-causing)

Additional Variant Information for DCHS2 Gene

Human Gene Mutation Database (HGMD)
DCHS2
SNPedia medical, phenotypic, and genealogical associations of SNPs for
DCHS2
Leiden Open Variation Database (LOVD)
DCHS2

SNP Genotyping and Copy Number Assays for research

No data available for Polymorphic Variants from UniProtKB/Swiss-Prot for DCHS2 Gene

Disorders for DCHS2 Gene

MalaCards: The human disease database

(7) MalaCards diseases for DCHS2 Gene - From: COP

Disorder Aliases PubMed IDs
van maldergem syndrome
  • cerebro-facio-articular syndrome
adult pineoblastoma
adult pineal parenchymal tumor
  • adult pineal parenchymal neoplasm
luminal breast carcinoma b
  • luminal b breast carcinoma
lung adenoid cystic carcinoma
  • adenoid cystic carcinoma of lung
- elite association - COSMIC cancer census association via MalaCards
Search DCHS2 in MalaCards View complete list of genes associated with diseases

Additional Disease Information for DCHS2

genes like me logo Genes that share disorders with DCHS2: view

No data available for UniProtKB/Swiss-Prot and Genatlas for DCHS2 Gene

Publications for DCHS2 Gene

  1. Identification of new human cadherin genes using a combination of protein motif search and gene finding methods. (PMID: 15003449) Hoeng JC … Liu Y (Journal of molecular biology 2004) 2 3 4
  2. Genome-wide association analysis of age-at-onset in Alzheimer's disease. (PMID: 22005931) Kamboh MI … Lopez OL (Molecular psychiatry 2012) 3 40
  3. Assessment of genetic determinants of the association of γ' fibrinogen in relation to cardiovascular disease. (PMID: 21757653) Lovely RS … Farrell DH (Arteriosclerosis, thrombosis, and vascular biology 2011) 3 40
  4. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PMID: 14702039) Ota T … Sugano S (Nature genetics 2004) 3 4
  5. Association between DCHS2 gene and mild cognitive impairment and Alzheimer's disease in an elderly Brazilian sample. (PMID: 26876984) Vieira RN … Bicalho MA (International journal of geriatric psychiatry 2016) 3

Products for DCHS2 Gene

Sources for DCHS2 Gene